A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675812



Internal ID10092950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130628753..130634255hg38UCSC Ensembl
Outerchr3:130347597..130353099hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385503
hg195503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725914
Supporting Variants
SamplesSSM032
Known GenesCOL6A6
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6675812
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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